ClinVar Miner

Variants with conflicting interpretations studied for Myelodysplastic syndrome

Coded as:
Minimum review status of the submission for Myelodysplastic syndrome: Y axis collection method of the submission for Myelodysplastic syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
2 12 0 26 0 1 1 27

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Myelodysplastic syndrome pathogenic likely pathogenic uncertain significance
pathogenic 0 1 0
likely pathogenic 25 0 1
risk factor 1 1 0

Condition to condition summary #

Total conditions: 35
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Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 1 0 14 0 0 0 14
Acute myeloid leukemia 0 23 0 11 0 1 0 12
Cutaneous melanoma 0 0 0 9 0 0 0 9
Neoplasm of the large intestine 0 21 0 5 0 0 0 5
Non-small cell lung cancer 0 0 0 5 0 0 0 5
Costello syndrome 0 0 0 3 0 0 0 3
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 0 0 2 0 0 0 2
Epidermal nevus 0 0 0 2 0 0 0 2
Hereditary cancer-predisposing syndrome 0 1 0 2 0 0 0 2
Inborn genetic diseases 0 1 0 2 0 0 0 2
Juvenile myelomonocytic leukemia 0 1 0 2 0 0 0 2
Li-Fraumeni syndrome 0 2 0 2 0 0 0 2
Li-Fraumeni syndrome 1 0 0 0 2 0 0 0 2
Nevus sebaceous 0 0 0 2 0 0 0 2
Rasopathy 0 0 0 2 0 0 0 2
Tatton-Brown-rahman syndrome 0 0 0 2 0 0 1 2
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 0 0 0 1 0 0 0 1
Carcinoma of colon 0 1 0 1 0 0 0 1
Congenital giant melanocytic nevus 0 0 0 1 0 0 0 1
D-2-hydroxyglutaric aciduria 2 0 0 0 1 0 0 0 1
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 0 0 0 0 0 1 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
Glioblastoma multiforme, somatic 0 0 0 1 0 0 0 1
Juvenile myelomonocytic leukemia; Noonan syndrome 0 0 0 1 0 0 0 1
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 0 0 0 0 0 1 0 1
Malignant Colorectal Neoplasm 0 0 0 1 0 0 0 1
Myelodysplastic syndrome progressed to acute myeloid leukemia 0 1 0 1 0 0 0 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
Nevus, woolly hair 0 0 0 1 0 0 0 1
Noonan syndrome 0 0 0 1 0 0 0 1
Noonan syndrome 6 0 0 0 1 0 0 0 1
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 0 0 0 1 0 0 0 1
RAS-associated autoimmune leukoproliferative disorder 0 0 0 1 0 0 0 1
Sarcoma 0 0 0 1 0 0 0 1
Seizures; hypotonia; Neurodevelopmental Disability 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002168.3(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) rs121913502
NM_002168.3(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005896.3(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.3(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.3(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_005896.3(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_022552.4(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.4(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.4(DNMT3A):c.2645G>C (p.Arg882Pro) rs147001633
NM_032638.4(GATA2):c.1061C>T (p.Thr354Met) rs387906631

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